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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1108033514
Gene: MGAM
HGNC
NCBI
OR9A4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1802324277
gnomAD v3:
7-141927254-G-GATCCA
gnomAD v4:
7-141927254-G-GATCCA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.141927254_141927255insATCCA , CM000669.2:g.141927254_141927255insATCCA
GRCh38
NC_000007.13:g.141627054_141627055insATCCA , CM000669.1:g.141627054_141627055insATCCA
GRCh37
NC_000007.12:g.141273523_141273524insATCCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000465654.5:c.-179-18567_-179-18566insATCCA
(MGAM)
ENSP00000419372.1:n.-179-18567_-179-18566...
ENST00000497554.1:n.37-2523_37-2522insATCCA
(MGAM)
XM_011515783.1:c.*24+7410_*24+7411insATCCA
(OR9A4)
XP_011514085.1:n.*24+7410_*24+7411insATCC...
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