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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:
PA110894
Gene: DHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29674
ClinVar RCV Id:
RCV000022525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000782.1:p.Asp153Val
CA128553
NM_000791.4:c.458A>T