ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829688311
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000579920
RCV001302591
RCV003338671
ClinVar Variation:
489705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp319His
CA10599866
NM_007297.4:c.955G>C