ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257755
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
32280
ClinVar RCV:
RCV000018781
ClinVar Variation:
17241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly547Asp
CA257753
NM_000089.4:c.1640G>A