ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992268
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000540088
RCV000989891
RCV003157699
ClinVar Variation:
462603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser993Thr
CA10595747
NM_007297.4:c.2978G>C