ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139691722
Gene: COL1A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Asp1413Asn
CA291542789
NM_000088.4:c.4237G>A