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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
Allele Registry
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Canonical Allele Identifier:
CA1108033520
Gene: MGAM
HGNC
NCBI
OR9A4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1471598265
gnomAD v3:
7-141927256-T-TG
gnomAD v4:
7-141927256-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.141927256_141927257insG , CM000669.2:g.141927256_141927257insG
GRCh38
NC_000007.13:g.141627056_141627057insG , CM000669.1:g.141627056_141627057insG
GRCh37
NC_000007.12:g.141273525_141273526insG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000465654.5:c.-179-18565_-179-18564insG
(MGAM)
ENSP00000419372.1:n.-179-18565_-179-18564...
ENST00000497554.1:n.37-2521_37-2520insG
(MGAM)
XM_011515783.1:c.*24+7412_*24+7413insG
(OR9A4)
XP_011514085.1:n.*24+7412_*24+7413insG
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