ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645439138
Gene: SGCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285931
ClinVar RCV Id:
RCV000325767
RCV000354282
RCV001094493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000014.1:p.Pro255Leu
CA8643912
NM_000023.3:c.764C>T