ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098554
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
413954
ClinVar RCV:
RCV000490716
ClinVar Variation:
425664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly331Asp
CA162920336
NM_000089.4:c.992G>A