ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829687983
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000049206
RCV000083228
RCV000218097
RCV000483940
RCV000780997
ClinVar Variation:
55767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala275Pro
CA003989
NM_007297.4:c.823G>C