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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830338561
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13196
ClinVar RCV Id:
RCV000014083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_722546.1:p.Arg119Gly
CA122954
NM_153824.3:c.355C>G