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: PA2573078788

Gene: MTTP HGNC NCBI

Linked Data

ClinVar Variation Id: 129628

ClinVar RCV Id: RCV000117640 RCV000348296 RCV001522093

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373069.1:p.His297Gln	CA153731 NM_001386140.1:c.891C>G CA357505927 NM_001386140.1:c.891C>A