ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104355
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2428514
ClinVar RCV Id:
RCV003120115
RCV003517446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Ile1398Val
CA400191675
NM_000088.4:c.4192A>G