ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3084020581
Gene: COL1A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Pro978Ala
CA400204633
NM_000088.4:c.2932C>G