ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA352898
Gene: GLA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222379
ClinVar RCV Id:
RCV000556577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000160.1:p.Gln250Pro
CA352896
NM_000169.3:c.749A>C