Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA1139668919

Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 855456

ClinVar RCV Id: RCV001060732

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Pro337Arg	CA371893301 NM_000127.3:c.1010C>G