ClinGen Allele Registry
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Canonical Allele Identifier:
PA277525
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000199225
RCV001589081
RCV002277551
RCV002519576
ClinVar Variation:
216909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Pro986Leu
CA277523
NM_000089.4:c.2957C>T