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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:
CA1748228041
Gene: MGAM
HGNC
NCBI
OR9A4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1802326827
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.141927349_141927350insA , CM000669.2:g.141927349_141927350insA
GRCh38
NC_000007.13:g.141627149_141627150insA , CM000669.1:g.141627149_141627150insA
GRCh37
NC_000007.12:g.141273618_141273619insA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000465654.5:c.-179-18472_-179-18471insA
(MGAM)
ENSP00000419372.1:n.-179-18472_-179-18471...
ENST00000497554.1:n.37-2428_37-2427insA
(MGAM)
XM_011515783.1:c.*24+7505_*24+7506insA
(OR9A4)
XP_011514085.1:n.*24+7505_*24+7506insA
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