ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829698027
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000238611
RCV000615770
RCV002518535
RCV004020983
ClinVar Variation:
252886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1750Leu
CA10586114
NM_007297.4:c.5249C>T