ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA232820
Gene: SAG
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
152802
ClinVar RCV:
RCV000132603
RCV000365394
RCV001137319
RCV001137320
RCV003888546
ClinVar Variation:
143084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000532.2:p.Arg84Cys
CA232819
NM_000541.5:c.250C>T